Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.52766213G>A | CA1910256982 | MBL2 | c.*1924C>T (n.*1924C>T) | dbSNP |
10 | g.52766213G= | CA1910256981 | MBL2 | c.*1924C= (n.*1924C=) | |
10 | g.52766213G>T | CA2609208878 | MBL2 | c.*1924C>A (n.*1924C>A) | gnomAD v4 |
10 | g.52766214A>G | CA2609208879 | MBL2 | c.*1923T>C (n.*1923T>C) | gnomAD v4 |
10 | g.52766217T>C | CA593571560 | MBL2 | c.*1920A>G (n.*1920A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52766217T= | CA1910256983 | MBL2 | c.*1920A= (n.*1920A=) | |
10 | g.52766219G>A | CA928435700 | MBL2 | c.*1918C>T (n.*1918C>T) | dbSNP |
10 | g.52766219G= | CA1910256984 | MBL2 | c.*1918C= (n.*1918C=) | |
10 | g.52766219G>T | CA2565178845 | MBL2 | c.*1918C>A (n.*1918C>A) | |
10 | g.52766221G>T | CA2609208880 | MBL2 | c.*1916C>A (n.*1916C>A) | gnomAD v4 |
10 | g.52766221_52766222delinsGA | CA1910256985 | MBL2 | c.*1915_*1916delinsTC (n.*1915_*1916delinsTC) | |
10 | g.52766222A= | CA1910256986 | MBL2 | c.*1915T= (n.*1915T=) | |
10 | g.52766222A>G | CA1910256987 | MBL2 | c.*1915T>C (n.*1915T>C) | dbSNP |
10 | g.52766223del | CA666356484 | MBL2 | c.*1915del (n.*1915del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766223A= | CA1910256988 | MBL2 | c.*1914T= (n.*1914T=) | |
10 | g.52766223A>G | CA666356485 | MBL2 | c.*1914T>C (n.*1914T>C) | dbSNP |
10 | g.52766224G>A | CA10631783 | MBL2 | c.*1913C>T (n.*1913C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52766224G>C | CA1910256990 | MBL2 | c.*1913C>G (n.*1913C>G) | dbSNP |
10 | g.52766224G= | CA1910256989 | MBL2 | c.*1913C= (n.*1913C=) | |
10 | g.52766225C= | CA1910256992 | MBL2 | c.*1912G= (n.*1912G=) | |
10 | g.52766225C>T | CA1910256993 | MBL2 | c.*1912G>A (n.*1912G>A) | dbSNP |
10 | g.52766225_52766227delinsCTG | CA1910256991 | MBL2 | c.*1910_*1912delinsCAG (n.*1910_*1912delinsCAG) | |
10 | g.52766227_52766228del | CA666356486 | MBL2 | c.*1910_*1911del (n.*1910_*1911del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766230T>A | CA207456838 | MBL2 | c.*1907A>T (n.*1907A>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766230T= | CA1910256994 | MBL2 | c.*1907A= (n.*1907A=) | |
10 | g.52766231C>A | CA666356492 | MBL2 | c.*1906G>T (n.*1906G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766231C= | CA1910256995 | MBL2 | c.*1906G= (n.*1906G=) | |
10 | g.52766234del | CA2609208881 | MBL2 | c.*1904del (n.*1904del) | gnomAD v4 |
10 | g.52766235T>C | CA2609208882 | MBL2 | c.*1902A>G (n.*1902A>G) | gnomAD v4 |
10 | g.52766236A= | CA1910256996 | MBL2 | c.*1901T= (n.*1901T=) | |
10 | g.52766236A>G | CA666356495 | MBL2 | c.*1901T>C (n.*1901T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766237T>C | CA2551380221 | MBL2 | c.*1900A>G (n.*1900A>G) | |
10 | g.52766241T>C | CA666356496 | MBL2 | c.*1896A>G (n.*1896A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766241T= | CA1910256997 | MBL2 | c.*1896A= (n.*1896A=) | |
10 | g.52766243T>A | CA2609208883 | MBL2 | c.*1894A>T (n.*1894A>T) | gnomAD v4 |
10 | g.52766243T>C | CA666356502 | MBL2 | c.*1894A>G (n.*1894A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766243T= | CA1910256998 | MBL2 | c.*1894A= (n.*1894A=) | |
10 | g.52766244G>C | CA2609208884 | MBL2 | c.*1893C>G (n.*1893C>G) | gnomAD v4 |
10 | g.52766248A>C | CA2609208885 | MBL2 | c.*1889T>G (n.*1889T>G) | gnomAD v4 |
10 | g.52766249T>A | CA207456839 | MBL2 | c.*1888A>T (n.*1888A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52766249T= | CA1910256999 | MBL2 | c.*1888A= (n.*1888A=) | |
10 | g.52766250C= | CA1910257000 | MBL2 | c.*1887G= (n.*1887G=) | |
10 | g.52766250C>G | CA666356507 | MBL2 | c.*1887G>C (n.*1887G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766253G>A | CA928435711 | MBL2 | c.*1884C>T (n.*1884C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766253G= | CA1910257001 | MBL2 | c.*1884C= (n.*1884C=) | |
10 | g.52766253G>T | CA2609208886 | MBL2 | c.*1884C>A (n.*1884C>A) | gnomAD v4 |
10 | g.52766254A= | CA1910257002 | MBL2 | c.*1883T= (n.*1883T=) | |
10 | g.52766254A>C | CA666356509 | MBL2 | c.*1883T>G (n.*1883T>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766255C= | CA1910257003 | MBL2 | c.*1882G= (n.*1882G=) | |
10 | g.52766255C>G | CA207456840 | MBL2 | c.*1882G>C (n.*1882G>C) | dbSNP gnomAD v3 gnomAD v4 |